LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1; CGL1

Question 1

What is  LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1; CGL1?

Accepted Answer

rare
autosomal recessive

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Lipodystrophie Typ 1; Lipodystrophie Berardinelli; generalisierte kongenitale Form

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 608594

Question 4

Which enzymes are involved?

Accepted Answer

1-acyl-sn-glycerol-3-phosphate acyltransferase beta

Disease	LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1; CGL1
Synonym	BERARDINELLI-SEIP CONGENITAL LIPODYSTROPHY, TYPE 1; BSCL1
OMIM	608594 OMIM = Online Mendelian Inheritance of Men
Orphanet	528
Protein (UniProt)	1-acyl-sn-glycerol-3-phosphate acyltransferase beta
ExPASy	2.3.1.51
Gene locus	9q34.3
ICD	E88.1
Summary	rare autosomal recessive
Laboratory findings	Leptin dec (serum) Transaminases (ASAT/ALAT) inc (serum) Triglycerides inc (serum)
Symptoms	acanthosis nigrans cardiomyopathy cardiomyopathy, hypertrophic cirrhosis or fibrosis of liver diabetes mellitus hepatomegaly (large liver) hirsutism hyperinsulinism increased growth velocity intellectual disability/intellectual developmental disorder lipodystrophia muscle hypertrophy onset, neonatal pancreatitis peripheral neuropathy psychomotor retardation umbilical hernia urolithiasis, nephrolithiasis, kidney stones